A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4215813



Internal ID20420590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:93361706..93438158hg38UCSC Ensembl
chr13:94013959..94090411hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3876453
hg1976453
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15956609
Samples
Known GenesGPC6
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4215813
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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